Canonical Allele Identifier: CA114720433
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 1216380
ClinVar RCV Id: RCV001581009
dbSNP Id: rs114499196
gnomAD v2: 5-14717101-C-A
gnomAD v3: 5-14716992-C-A
gnomAD v4: 5-14716992-C-A
MyVariant Identifiers: chr5:g.14717101C>A (hg19) chr5:g.14716992C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716992C>A , CM000667.2:g.14716992C>A GRCh38
NC_000005.9:g.14717101C>A , CM000667.1:g.14717101C>A GRCh37
NC_000005.8:g.14770101C>A NCBI36
NG_008273.1:g.159787G>T
NG_008273.2:g.159794G>T
NG_051625.1:g.61199C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-157G>T MANE Select ENSP00000284268.6:n.1012-157G>T
ENST00000284268.6:c.1012-157G>T ENSP00000284268.6:n.1012-157G>T
ENST00000502585.1:n.97G>T
NM_054027.4:c.1012-157G>T NP_473368.1:n.1012-157G>T
NM_054027.5:c.1012-157G>T NP_473368.1:n.1012-157G>T
XM_017009644.2:c.928-157G>T XP_016865133.1:n.928-157G>T
NM_054027.6:c.1012-157G>T MANE Select NP_473368.1:n.1012-157G>T
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